ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.13984A>G (p.Ile4662Val)

gnomAD frequency: 0.00006  dbSNP: rs374783099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172438 SCV000055090 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041036 SCV000064727 uncertain significance not specified 2014-12-17 criteria provided, single submitter clinical testing The p.Ile4662Val variant in TTN has been identified by our laboratory in 1 Cauca sian individual with DCM. It has also been identified in 2/67120 European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs374783099). Computational analyses are limited or unavailable for this variant. In summary, the clinical significance of the p.Ile4662Val variant is un certain.
Fulgent Genetics, Fulgent Genetics RCV002483023 SCV002786711 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2022-03-31 criteria provided, single submitter clinical testing

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